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Newborn screening is a public health program that provides early identification and follow-up for treatment of infants affected by certain genetic, metabolic, hormonal and/or functional conditions. Newborn screening tests look for uncommon health disorders that affect how the body works. Babies with these conditions often look healthy. But unless the condition is diagnosed and treated early, the baby can develop lasting physical problems or mental retardation, or may even die.
The test is simple. A health care provider will prick the baby’s heel to get a few drops of blood. There is no risk to the baby, except maybe some bruising or soreness where the skin was pricked. The blood sample goes to a lab for testing. The results usually are sent to the baby’s health care provider.
Most likely, the test results will be normal. This means the baby probably doesn’t have one of the disorders. If the result is not normal, more tests are needed right away. If a disorder is detected, early treatment is essential.
The March of Dimes and the American Academy of Pediatrics have endorsed the recommendation of the American College of Medical Genetics that calls for every baby born in the United States to be screened for 29 disorders, including certain metabolic conditions and hearing deficiency. If diagnosed early, all of these conditions can be successfully managed or treated to prevent severe consequences.
You can find a brochure about the recommended newborn screening tests, online, at the March of Dimes Web site at: www.marchofdimes.com/nbs.
In South Carolina, babies are screened for 28 of the recommended 29 disorders, as listed below. South Carolina excludes a hearing deficiency screen.
Organic Acid Metabolism Disorders -- test by MS/MS:
IVA = Isovaleric acidemia
GA-I = Glutaric acidemia type I
HMG = Hydroxymethylglutaric aciduria, also called 3-OH 3-CH3 glutaric aciduria
MCD = Multiple carboxylase deficiency
MUT = Methylmalonic acidemia, mutase deficiency form
3MCC = 3-Methylcrotonyl-CoA carboxylase deficiency
Cbl A,B = Methylmalonic acidemia, Cbl A and Cbl B forms
PROP = Propionic acidemia
BKT = Beta-ketothiolase deficiency
Fatty Acid Oxidation Disorders-- test by MS/MS:
MCAD = Medium-chain acyl-CoA dehydrogenase deficiency
VLCAD = Very-long-chain acyl-CoA dehydrogenase deficiency
LCHAD = Long-chain hydroxyacyl-CoA dehydrogenase deficiency
TFP = Trifunctional protein deficiency
CUD = Carnitine uptake defect
Amino Acid Metabolism Disorders -- test by MS/MS:
PKU = Phenylketonuria
MSUD = Maple syrup urine disease
HCY = Homocystinuria
CIT = Citrullinemia
ASA = Argininosuccinic acidemia
TYR I = Tyrosinemia type I
Hemoglobinopathies (Hemoglobin Disorders)
Hb SS = Sickle cell anemia
Hb S/Th = Hb S/Beta-thalassemia
Hb S/C = Hb S/C disease
Others
CH = Congenital hypothyroidism
BIOT = Biotinidase deficiency
CAH = Congenital adrenal hyperplasia
GALT = Galactosemia
CF = Cystic fibrosis
The March of Dimes is a national voluntary health agency whose mission is to improve the health of babies by preventing birth defects, premature birth and infant mortality. Founded in 1938, the March of Dimes funds programs of research, community services, education, and advocacy to save babies and in 2003 launched a campaign to address the increasing rate of premature birth. For more information, visit the March of Dimes Web site at marchofdimes.com or its Spanish language Web site at nacersano.org.
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